D57V (p.Asp57Val) variant of CHD8 (Q9HCK8)
D57V (p.Asp57Val) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
D57V (p.Asp57Val) variant details
- p.Asp57Val
- gnomAD rs1178044952
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 21.20
- PolyPhen-2 0.81
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.3e-05)